Canonical Allele Identifier: CA292951483
Gene: PSMC5 HGNC NCBI

Linked Data

dbSNP Id: rs115733234
gnomAD v2: 17-61909382-C-A
gnomAD v3: 17-63832022-C-A
gnomAD v4: 17-63832022-C-A
MyVariant Identifiers: chr17:g.61909382C>A (hg19) chr17:g.63832022C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63832022C>A , CM000679.2:g.63832022C>A GRCh38
NC_000017.10:g.61909382C>A , CM000679.1:g.61909382C>A GRCh37
NC_000017.9:g.59263114C>A NCBI36
NG_053004.1:g.15970G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375812.8:c.*53C>A ENSP00000364970.4:n.*53C>A
NM_001199163.1:c.*53C>A NP_001186092.1:n.*53C>A
NM_002805.5:c.*53C>A NP_002796.4:n.*53C>A
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